Medical comorbidities in autism: challenges to diagnosis and treatment

ML Bauman - Neurotherapeutics, 2010 - Springer
Ever since its original description by Leo Kanner in 1943, autism has been generally defined
by its clinical characteristics and core symptoms that include impaired social skills, isolated …

Genetic causes of developmental disorders

JAS Vorstman, RA Ophoff - Current opinion in neurology, 2013 - journals.lww.com
Similar to what is the case for intellectual disability, recent genetic studies indicate a large
degree of genetic heterogeneity for autism and ADHD. Many of the disease risk variants …

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

CP Schaaf, A Sabo, Y Sakai, J Crosby… - Human molecular …, 2011 - academic.oup.com
Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental
disorders. While significant progress has been made in the identification of genes and copy …

Autism spectrum disorders: molecular genetic advances

E Bacchelli, E Maestrini - … Journal of Medical Genetics Part C …, 2006 - Wiley Online Library
Despite the strong genetic basis of autism spectrum disorders (ASD), research efforts in the
last decade have not been successful in the identification of confirmed susceptibility genes …

The genetics of autism

R Muhle, SV Trentacoste, I Rapin - Pediatrics, 2004 - publications.aap.org
Autism is a complex, behaviorally defined, static disorder of the immature brain that is of
great concern to the practicing pediatrician because of an astonishing 556% reported …

A genomewide screen for autism susceptibility loci

J Liu, DR Nyholt, P Magnussen, E Parano… - The American Journal of …, 2001 - cell.com
We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with
autism. All families include at least two" affected" siblings, at least one of whom has autism; …

Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder

JLR Rubenstein - Current opinion in neurology, 2010 - journals.lww.com
The genetic landscape of ASDs has several salient features [2–4]. ASDs are heritable–
concordance rates in monozygotic twins ($60–90%) are roughly ten-fold higher than in …

Genetic and epigenetic networks in intellectual disabilities

H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …

Genetic research in autism spectrum disorders

EB Robinson, BM Neale, SE Hyman - Current opinion in pediatrics, 2015 - journals.lww.com
Genetic studies have the potential to identify the biological underpinnings of ASDs and other
neuropsychiatric disorders. The data they generate are already being used to examine …

Autism spectrum disorders: from genes to neurobiology

AJ Willsey, MW State - Current opinion in neurobiology, 2015 - Elsevier
Highlights•High throughput genomic methods are rapidly increasing the pool of ASD
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to …